Laumonnier_2004_Am.J.Hum.Genet_74_552

Reference

Title : X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family - Laumonnier_2004_Am.J.Hum.Genet_74_552
Author(s) : Laumonnier F , Bonnet-Brilhault F , Gomot M , Blanc R , David A , Moizard MP , Raynaud M , Ronce N , Lemonnier E , Calvas P , Laudier B , Chelly J , Fryns JP , Ropers HH , Hamel BC , Andres C , Barthelemy C , Moraine C , Briault S
Ref : American Journal of Human Genetics , 74 :552 , 2004
Abstract : A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins.
ESTHER : Laumonnier_2004_Am.J.Hum.Genet_74_552
PubMedSearch : Laumonnier_2004_Am.J.Hum.Genet_74_552
PubMedID: 14963808
Gene_locus related to this paper: human-NLGN4X

Related information

Gene_locus related to this paper: human-NLGN4X

Citations formats

Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthelemy C, Moraine C, Briault S (2004)
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
American Journal of Human Genetics 74 :552

Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthelemy C, Moraine C, Briault S (2004)
American Journal of Human Genetics 74 :552